Incidental Mutation 'IGL03408:Wfdc2'
| ID |
421680 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Wfdc2
|
| Ensembl Gene |
ENSMUSG00000017723 |
| Gene Name |
WAP four-disulfide core domain 2 |
| Synonyms |
HE4, WAP5, 1600023A02Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
IGL03408
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
164404635-164410430 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 164405283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 61
(C61*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119391
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017867]
[ENSMUST00000109344]
[ENSMUST00000109345]
[ENSMUST00000125051]
|
| AlphaFold |
Q9DAU7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000017867
AA Change: C45*
|
| SMART Domains |
Protein: ENSMUSP00000017867
Gene: ENSMUSG00000017723
AA Change: C45*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
WAP
|
32 |
74 |
8.42e-4 |
SMART |
|
WAP
|
128 |
173 |
1.12e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109344
|
| SMART Domains |
Protein: ENSMUSP00000104968
Gene: ENSMUSG00000017723
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
WAP
|
28 |
73 |
1.12e-16 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000109345
AA Change: C45*
|
| SMART Domains |
Protein: ENSMUSP00000104969
Gene: ENSMUSG00000017723
AA Change: C45*
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
WAP
|
32 |
74 |
8.42e-4 |
SMART |
|
WAP
|
76 |
121 |
1.12e-16 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000125051
AA Change: C61*
|
| SMART Domains |
Protein: ENSMUSP00000119391
Gene: ENSMUSG00000017723
AA Change: C61*
| Domain | Start | End | E-Value | Type |
|---|
|
WAP
|
48 |
90 |
8.42e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146270
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151754
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is a member of the WFDC domain family. The WFDC domain, or WAP Signature motif, contains eight cysteines forming four disulfide bonds at the core of the protein, and functions as a protease inhibitor in many family members. This gene is expressed in pulmonary epithelial cells, and was also found to be expressed in some ovarian cancers. The encoded protein is a small secretory protein, which may be involved in sperm maturation. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,303,954 (GRCm39) |
F2108I |
probably damaging |
Het |
| Aco2 |
T |
C |
15: 81,783,424 (GRCm39) |
|
probably null |
Het |
| Ccdc186 |
T |
C |
19: 56,787,163 (GRCm39) |
K602E |
probably benign |
Het |
| Ccdc85a |
T |
A |
11: 28,526,528 (GRCm39) |
H360L |
probably damaging |
Het |
| Cited2 |
A |
G |
10: 17,600,148 (GRCm39) |
H152R |
possibly damaging |
Het |
| Cluh |
C |
A |
11: 74,556,779 (GRCm39) |
R940S |
probably benign |
Het |
| Corin |
T |
A |
5: 72,500,304 (GRCm39) |
Y432F |
probably benign |
Het |
| Creb1 |
A |
G |
1: 64,615,491 (GRCm39) |
|
probably null |
Het |
| Dhx15 |
A |
T |
5: 52,317,654 (GRCm39) |
D568E |
probably damaging |
Het |
| Efcab3 |
T |
A |
11: 104,601,447 (GRCm39) |
S253R |
probably benign |
Het |
| Esam |
G |
T |
9: 37,445,949 (GRCm39) |
R162S |
possibly damaging |
Het |
| Fat3 |
T |
A |
9: 15,909,253 (GRCm39) |
K2250* |
probably null |
Het |
| Fbxl17 |
G |
A |
17: 63,387,541 (GRCm39) |
R133* |
probably null |
Het |
| Gzmc |
C |
T |
14: 56,471,473 (GRCm39) |
G23R |
probably damaging |
Het |
| Idh3a |
A |
G |
9: 54,504,206 (GRCm39) |
N189D |
probably benign |
Het |
| Il31ra |
A |
T |
13: 112,662,422 (GRCm39) |
D462E |
probably benign |
Het |
| Inava |
T |
C |
1: 136,142,143 (GRCm39) |
Y652C |
probably benign |
Het |
| Inpp5j |
G |
A |
11: 3,452,809 (GRCm39) |
A147V |
possibly damaging |
Het |
| Kalrn |
G |
A |
16: 34,134,546 (GRCm39) |
A412V |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,748,594 (GRCm39) |
V2968A |
probably damaging |
Het |
| Morc1 |
G |
A |
16: 48,262,775 (GRCm39) |
G42R |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,784,542 (GRCm39) |
L85P |
probably benign |
Het |
| Or4c52 |
G |
A |
2: 89,845,915 (GRCm39) |
V214M |
probably benign |
Het |
| Or5p73 |
A |
T |
7: 108,064,554 (GRCm39) |
N8Y |
probably damaging |
Het |
| Parp4 |
T |
A |
14: 56,839,865 (GRCm39) |
H524Q |
probably damaging |
Het |
| Pole |
T |
C |
5: 110,442,426 (GRCm39) |
F285L |
probably damaging |
Het |
| Scn9a |
A |
G |
2: 66,357,091 (GRCm39) |
M1070T |
probably benign |
Het |
| Slc25a32 |
G |
A |
15: 38,963,425 (GRCm39) |
A132V |
probably benign |
Het |
| Sult2a2 |
T |
G |
7: 13,472,154 (GRCm39) |
I117S |
probably damaging |
Het |
| Suv39h2 |
T |
C |
2: 3,460,913 (GRCm39) |
N183S |
probably damaging |
Het |
| Trhr2 |
G |
A |
8: 123,085,534 (GRCm39) |
T150M |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,396,957 (GRCm39) |
F614I |
possibly damaging |
Het |
| Vmn2r17 |
A |
G |
5: 109,577,238 (GRCm39) |
|
probably benign |
Het |
| Zfp384 |
T |
C |
6: 125,012,676 (GRCm39) |
S377P |
probably damaging |
Het |
| Zfp945 |
A |
T |
17: 23,071,511 (GRCm39) |
Y150* |
probably null |
Het |
|
| Other mutations in Wfdc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01603:Wfdc2
|
APN |
2 |
164,405,979 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02946:Wfdc2
|
APN |
2 |
164,406,009 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1528:Wfdc2
|
UTSW |
2 |
164,407,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5368:Wfdc2
|
UTSW |
2 |
164,405,354 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6532:Wfdc2
|
UTSW |
2 |
164,405,296 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6737:Wfdc2
|
UTSW |
2 |
164,405,362 (GRCm39) |
nonsense |
probably null |
|
|
R6742:Wfdc2
|
UTSW |
2 |
164,404,706 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6818:Wfdc2
|
UTSW |
2 |
164,405,070 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7573:Wfdc2
|
UTSW |
2 |
164,407,741 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8501:Wfdc2
|
UTSW |
2 |
164,405,279 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8750:Wfdc2
|
UTSW |
2 |
164,407,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Wfdc2
|
UTSW |
2 |
164,406,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation